Frasier syndrome

Preferred Label : Frasier syndrome;

Type : Phenotype, molecular basis known;

Description : Frasier syndrome is a rare disorder defined by pseudohermaphroditism and progressive glomerulopathy (Frasier et al., 1964; Haning et al., 1985; Kinberg et al., 1987). Patients present with normal female external genitalia, streak gonads, and XY karyotype, and frequently develop gonadoblastoma (Blanchet et al., 1977). Glomerular symptoms consist of childhood proteinuria and nephrotic syndrome, characterized by nonspecific focal and segmental glomerular sclerosis, progressing to end-stage renal failure in adolescence or early adulthood. Wilms tumor is not a usual feature (Barbaux et al., 1997).;

Inheritance : Autosomal dominant; Somatic mutation;

Molecular basis : Caused by mutations in the Wilms tumor 1 gene (WT1, 607102.0018).;

Neoplasia : Gonadoblastoma;

Prefixed ID : #136680;

Details

Origin ID

136680;

UMLS CUI

C0950122;

Automatic exact mappings (from CISMeF team)
- Frasier syndrome [ICD-11 More detail]
- Frasier syndrome [MedDRA Preferred Term]
Currated CISMeF NLP mapping
- Frasier Syndrome [NCIt concept]
- Frasier syndrome [DO Concept]
- Frasier syndrome [ORDO Disease]
- Frasier syndrome (disorder) [SNOMED CT concept]
- frasier syndrome [MeSH Descriptor]
- frasier syndrome [MeSH concept]
DO Cross reference
- Frasier syndrome [DO Concept]
Genes related to phenotype
- Wt1 transcription factor [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Chronic renal failure [HPO term]
- Focal segmental glomerulosclerosis [HPO term]
- Gonadal dysgenesis [HPO term]
- Male pseudohermaphroditism [HPO term]
- Nephrotic syndrome [HPO term]
- Ovarian gonadoblastoma [HPO term]
- Primary amenorrhea [HPO term]
- Proteinuria [HPO term]
- Somatic mutation [HPO term]
- Stage 5 chronic kidney disease [HPO term]
ORDO concept(s)
- Frasier syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Frasier Syndrome [NCIt concept]
- Frasier syndrome [ORDO Disease]
- Frasier syndrome [DO Concept]
- Frasier syndrome [MedDRA Preferred Term]
- Frasier syndrome (disorder) [SNOMED CT concept]
- frasier syndrome [MeSH Descriptor]
- frasier syndrome [MeSH concept]

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